Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search

Mutai H, Miya F, Nara K, Yamamoto N, Inoue S, Murakami H, Namba K, Shitara H, Minami S, Nakano A, Arimoto Y, Morimoto N, Kawasaki T, Wasano K, Fujioka M, Uchida Y, Kaga K, Yamazawa K, Kikkawa Y, Kosaki K, Tsunoda T, Matsunaga T.
Hum Genet. 2025;144(1):93-112.
DOI: 10.1007/s00439-024-02719-5 ／ PubMed: 39755840